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 Blood, 1 February 2007, Vol. 109, No. 3, pp. 1182-1184.
Prepublished online as a Blood First Edition Paper on September 21, 2006; DOI 10.1182/blood-2006-08-039057.

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IMMUNOBIOLOGY

Brief Report

Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1

Yumi Tone1, Taizo Wada1, Fumie Shibata1, Tomoko Toma1, Yoko Hashida1, Yoshihito Kasahara1, Shoichi Koizumi1, and Akihiro Yachie2

1 Department of Pediatrics, Graduate School of Medical Science and School of Medicine, Kanazawa University, Kanazawa, Japan; and 2 Department of Laboratory Sciences, School of Health Sciences, Faculty of Medicine, Kanazawa University, Kanazawa, Japan

Leukocyte adhesion deficiency type 1 (LAD-1) is an autosomal recessive disorder caused by mutations in the ITGB2 (CD18) gene and characterized by recurrent severe infections, impaired pus formation, and defective wound healing. We describe an unusual case of severe phenotypic LAD-1 presenting with somatic mosaicism. The patient is a compound heterozygote bearing 2 different frameshift mutations that abrogate protein expression. However, CD18 expression was detected in a small proportion of T cells but was undetectable in granulocytes, monocytes, B cells, and natural killer (NK) cells. The T cells were not of maternal origin, lacked the paternal mutation, and showed a selective advantage in vivo. Molecular analysis using sorted CD18+ cells revealed them to be derived from a single CD8+ T cell carrying T-cell receptor VB22. These findings suggest that spontaneous in vivo reversion was responsible for the somatic mosaicism in our patient.


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